- Prader-Willi syndrome
[作者：Cassidy, SB; Driscoll, DJ,期刊：European Journal of Human Genetics, 页码：3-13 , 文章类型： Article，,卷期：2009年17-1]
- Prader-Willi syndrome (PWS) is a highly variable genetic disorder affecting multiple body systems whose most consistent major manifestations include hypotonia with poor suck and poor weight gain in infancy; mild mental r...
- Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3)
[作者：Alsmadi, O; Meyer, BF; Alkuraya, F; Wakil, S; Alkayal, F; Al-Saud, H; Ramzan, K; Al-Sayed, M,期刊：European Journal of Human Genetics, 页码：14-21 , 文章类型： Article，,卷期：2009年17-1]
- We identified a homozygous missense mutation (c.196G -> T) in fibroblast growth factor 3 (FGF3) in 21 affected individuals from a large extended consanguineous Saudi family, phenotypically characterized by autosomal rece...
- Low frequency of imprinting defects in ICSI children born small for gestational age
[作者：Kanber, D; Buiting, K; Zeschnigk, M; Ludwig, M; Horsthemke, B,期刊：European Journal of Human Genetics, 页码：22-29 , 文章类型： Article，,卷期：2009年17-1]
- Although there is an increased frequency of low birth weight after assisted reproduction, the mechanisms underlying this association are unclear. We have proposed that some of the children conceived by intracytoplasmic s...
- Identification of ectodysplasin-A receptor gene deletion at 2q12.2 and a potential autosomal MR locus
[作者：Griggs, BL; Ladd, S; Decker, A; DuPont, BR; Asamoah, A; Srivastava, AK,期刊：European Journal of Human Genetics, 页码：30-36 , 文章类型： Article，,卷期：2009年17-1]
- Mental retardation (MR) is not a common feature observed in patients with classical ectodermal dysplasias (EDs). Several genes responsible for EDs and MR have been identified. However, the causation has yet to be identif...
- Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties
[作者：Glancy, M; Barnicoat, A; Vijeratnam, R; de Souza, S; Gilmore, J; Huang, SW; Maloney, VK; Thomas, NS; Bunyan, DJ; Jackson, A; Barber, JCK,期刊：European Journal of Human Genetics, 页码：37-43 , 文章类型： Article，,卷期：2009年17-1]
- Duplications of distal 8p with and without significant clinical phenotypes have been reported and are often associated with an unusual degree of structural complexity. Here, we present a duplication of 8p23.1-8p23.2 asce...
- Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions
[作者：Bhatt, S; Moradkhani, K; Mrasek, K; Puechberty, J; Manvelyan, M; Hunstig, F; Lefort, G; Weise, A; Lespinasse, J; Sarda, P; Liehr, T; Hamamah, S; Pellestor, F,期刊：European Journal of Human Genetics, 页码：44-50 , 文章类型： Article，,卷期：2009年17-1]
- Paracentric inversions (PAIs) are structural chromosomal rearrangements generally considered to be harmless. To date, only a few studies have been performed concerning the meiotic segregation of these rearrangements, usi...
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders - updated European recommendations
[作者：Dequeker, E; Stuhrmann, M; Morris, MA; Casals, T; Castellani, C; Claustres, M; Cuppens, H; Des Georges, M; Ferec, C; Macek, M; Pignatti, PF; Scheffer, H; Schwartz, M; Witt, M; Schwarz, M; Girodon, E,期刊：European Journal of Human Genetics, 页码：51-65 , 文章类型： Article，,卷期：2009年17-1]
- The increasing number of laboratories offering molecular genetic analysis of the CFTR gene and the growing use of commercial kits strengthen the need for an update of previous best practice guidelines (published in 2000)...
- Problems assessing uptake of Huntington disease predictive testing and a proposed solution
[作者：Tassicker, RJ; Teltscher, B; Trembath, MK; Collins, V; Sheffield, LJ; Chiu, E; Gurrin, L; Delatycki, MB,期刊：European Journal of Human Genetics, 页码：66-70 , 文章类型： Article，,卷期：2009年17-1]
- The uptake of predictive testing for Huntington disease informs our understanding of decision making by those at risk and assists with planning for service provision. Uptake figures have been reported from several center...
- Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat
[作者：Font-Llitjos, M; Rodriguez-Santiago, B; Espino, M; Sillue, R; Manas, S; Gomez, L; Perez-Jurado, LA; Palacin, M; Nunes, V,期刊：European Journal of Human Genetics, 页码：71-79 , 文章类型： Article，,卷期：2009年17-1]
- Lysinuric protein intolerance (LPI) is a rare autosomal inherited disease caused by defective cationic aminoacid transport 4F2hc/y(+)LAT-1 at the basolateral membrane of epithelial cells in the intestine and kidney. LPI ...
- An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians
[作者：Ebermann, I; Koenekoop, RK; Lopez, I; Bou-Khzam, L; Pigeon, R; Bolz, HJ,期刊：European Journal of Human Genetics, 页码：80-84 , 文章类型： Article，,卷期：2009年17-1]
- Congenital hearing loss affects approximately one child in 1000. About 10% of the deaf population have Usher syndrome (USH). In USH, hearing loss is complicated by retinal degeneration with onset in the first (USH1) or s...
- LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance
[作者：Snozek, CLH; Lagerstedt, SA; Khoo, TK; Rubenfire, M; Isley, WL; Train, LJ; Baudhuin, LM,期刊：European Journal of Human Genetics, 页码：85-90 , 文章类型： Article，,卷期：2009年17-1]
- Familial hypercholesterolemia (FH) is the most common form of autosomal-dominant hypercholesterolemia, and is caused by mutations in the low-density lipoprotein receptor (LDLR) gene. Heterozygous FH is characterized by e...
- Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome
[作者：Di Gaetano, C; Cerutti, N; Crobu, F; Robino, C; Inturri, S; Gino, S; Guarrera, S; Underhill, PA; King, RJ; Romano, V; Cali, F; Gasparini, M; Matullo, G; Salerno, A; Torre, C; Piazza, A,期刊：European Journal of Human Genetics, 页码：91-99 , 文章类型： Article，,卷期：2009年17-1]
- The presence or absence of genetic heterogeneity in Sicily has long been debated. Through the analysis of the variation of Y-chromosome lineages, using the combination of haplogroups and short tandem repeats from several...
- Variation near complement factor I is associated with risk of advanced AMD
[作者：Fagerness, JA; Maller, JB; Neale, BM; Reynolds, RC; Daly, MJ; Seddon, JM,期刊：European Journal of Human Genetics, 页码：100-104 , 文章类型： Article，,卷期：2009年17-1]
- A case-control association study for advanced age-related macular degeneration was conducted to explore several regions of interest identified by linkage. This analysis identified a single nucleotide polymorphism just 3'...
- Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
[作者：Van Opstal, D; Boter, M; de Jong, D; van den Berg, C; Bruggenwirth, HT; Wildschut, HIJ; de Klein, A; Galjaard, RJH,期刊：European Journal of Human Genetics, 页码：112-121 , 文章类型： Article，,卷期：2009年17-1]
- The introduction of prenatal screening requires rapid high-throughput diagnosis of common aneuploidies. Multiplex ligation-dependent probe amplification (MLPA) allows for quick, easily automated multiplex testing of thes...
- Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1
[作者：Belguith, H; Masmoudi, S; Medlej-Hashim, M; Chouery, E; Weil, D; Ayadi, H; Petit, C; Megarbane, A,期刊：European Journal of Human Genetics, 页码：122-124 , 文章类型： Article，,卷期：2009年17-1]
- Homozygosity mapping is a powerful resource for mapping and identifying loci and genes responsible for autosomal recessive disorders. Nevertheless, it could result in the identification of several homozygous regions unre...
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